Английская Википедия:Hereditary hyperbilirubinemia

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Шаблон:Infobox medical condition (new) Hereditary hyperbilirubinemia refers to the condition where levels of bilirubin are elevated, for reasons that can be attributed to a metabolic disorder.

An example is Crigler–Najjar syndrome.

Symptoms and signs

UGT1A1 gene mutations causes the condition. As a result, there can be reduced functionality of the bilirubin-UGT enzyme. Eventually it causes unconjugated hyperbilirubinemia and jaundice as substance accumulates in the body due to the reduced ability of the enzyme.[1]

Diagnosis

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Management

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References

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Further reading

External links

Шаблон:Medical resources Шаблон:Heme metabolism disorders


Шаблон:Genetic-disorder-stub Шаблон:Endocrine-disease-stub